Singling out motor neurons in the age of single-cell transcriptomics

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

(2022) Ahmad Al Khleifat et al.   npj Genomic Medicine

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

(2022) X. Rosa Ma et al.   NATURE

p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)

(2021) Maya Maor-Nof et al.   CELL

Single-Cell Sequencing of Brain Cell Transcriptomes and Epigenomes

(2021) Ethan J. Armand et al.   NEURON

A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain

(2021) Anoushka Joglekar et al.   Nature Communications

COVID-19 immune features revealed by a large-scale single-cell transcriptome atlas

(2021) Xianwen Ren et al.   CELL

Single-cell transcriptomic analysis of the adult mouse spinal cord reveals molecular diversity of autonomic and skeletal motor neurons

(2021) Jacob A. Blum et al.   NATURE NEUROSCIENCE

Gene co-expression network analysis in human spinal cord highlights mechanisms underlying amyotrophic lateral sclerosis susceptibility

(2021) Jerry C. Wang et al.   Scientific Reports

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

(2021) Nasa Sinnott-Armstrong et al.   eLife

Conserved genetic signatures parcellate cardinal spinal neuron classes into local and projection subsets

(2021) Peter J. Osseward et al.   SCIENCE

Connecting TDP-43 Pathology with Neuropathy

(2021) Joseph R. Klim et al.   TRENDS IN NEUROSCIENCES

Single nucleus RNA-sequencing defines unexpected diversity of cholinergic neuron types in the adult mouse spinal cord

(2021) Mor R. Alkaslasi et al.   Nature Communications

Propensity for somatic expansion increases over the course of life in Huntington disease

(2021) Radhia Kacher et al.   eLife

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

Molecular mechanisms underlying nucleotide repeat expansion disorders

(2021) Indranil Malik et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Highly selective brain-to-gut communication via genetically defined vagus neurons

(2021) Jenkang Tao et al.   NEURON

Embryo-scale, single-cell spatial transcriptomics

(2021) Sanjay R. Srivatsan et al.   SCIENCE

Clinical characterization of dysautonomia in long COVID-19 patients

(2021) Nicolas Barizien et al.   Scientific Reports

Phosphorylated TDP-43 aggregates in peripheral motor nerves of patients with amyotrophic lateral sclerosis

(2021) Nilo Riva et al.   BRAIN

Isoform cell-type specificity in the mouse primary motor cortex

(2021) A. Sina Booeshaghi et al.   NATURE

Single-cell epigenomics reveals mechanisms of human cortical development

(2021) Ryan S. Ziffra et al.   NATURE

Comparative cellular analysis of motor cortex in human, marmoset and mouse

(2021) Trygve E. Bakken et al.   NATURE

A harmonized atlas of mouse spinal cord cell types and their spatial organization

(2021) Daniel E. Russ et al.   Nature Communications

Spatial transcriptomics identifies spatially dysregulated expression of GRM3 and USP47 in amyotrophic lateral sclerosis

(2020) J. M. Gregory et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Presynaptic Homeostasis Opposes Disease Progression in Mouse Models of ALS-Like Degeneration: Evidence for Homeostatic Neuroprotection

(2020) Brian O. Orr et al.   NEURON

HDAC1 modulates OGG1-initiated oxidative DNA damage repair in the aging brain and Alzheimer’s disease

(2020) Ping-Chieh Pao et al.   Nature Communications

Spatial Transcriptomics and In Situ Sequencing to Study Alzheimer’s Disease

(2020) Wei-Ting Chen et al.   CELL

Integration of GWAS Summary Statistics and Gene Expression Reveals Target Cell Types Underlying Kidney Function Traits

(2020) Yong Li et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy

(2020) Susanne Nichterwitz et al.   GENOME RESEARCH

Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease

(2020) Galen E B Wright et al.   HUMAN MOLECULAR GENETICS

Generation of Functional Human 3D Cortico-Motor Assembloids

(2020) Jimena Andersen et al.   CELL

Autonomic dysfunction in ‘long COVID’: rationale, physiology and management strategies

(2020) Melanie Dani et al.   CLINICAL MEDICINE

Imaging Transcriptomics in Neurodegenerative Diseases

(2020) Magdalena Mroczek et al.   JOURNAL OF NEUROIMAGING

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

Integrative single-cell analysis

(2019) Tim Stuart et al.   NATURE REVIEWS GENETICS

Opportunities and challenges for transcriptome-wide association studies

(2019) Michael Wainberg et al.   NATURE GENETICS

Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72-ALS/FTD

(2019) Rodrigo Lopez-Gonzalez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis

(2019) Silas Maniatis et al.   SCIENCE

Loss of Nuclear TDP-43 Is Associated with Decondensation of LINE Retrotransposons

(2019) Elaine Y. Liu et al.   Cell Reports

Modeling Motor Neuron Resilience in ALS Using Stem Cells

(2019) Ilary Allodi et al.   Stem Cell Reports

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms

(2019) Michael A Lodato et al.   HUMAN MOLECULAR GENETICS

The translational landscape in spinal cord injury: focus on neuroplasticity and regeneration

(2019) Thomas H. Hutson et al.   Nature Reviews Neurology

Single-Cell Profiles of Retinal Ganglion Cells Differing in Resilience to Injury Reveal Neuroprotective Genes

(2019) Nicholas M. Tran et al.   NEURON

Transcriptome–pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS

(2018) Florian Krach et al.   ACTA NEUROPATHOLOGICA

The Biology of Regeneration Failure and Success After Spinal Cord Injury

(2018) Amanda Phuong Tran et al.   PHYSIOLOGICAL REVIEWS

Three-dimensional intact-tissue sequencing of single-cell transcriptional states

(2018) Xiao Wang et al.   SCIENCE

Single-cell profiling of the developing mouse brain and spinal cord with split-pool barcoding

(2018) Alexander B. Rosenberg et al.   SCIENCE

Massively Parallel Single Nucleus Transcriptional Profiling Defines Spinal Cord Neurons and Their Activity during Behavior

(2018) Anupama Sathyamurthy et al.   Cell Reports

Generation and assembly of human brain region–specific three-dimensional cultures

(2018) Steven A. Sloan et al.   Nature Protocols

Combination of biomaterial transplantation and genetic enhancement of intrinsic growth capacities to promote CNS axon regeneration after spinal cord injury

(2018) Bin Yu et al.   Frontiers of Medicine

Cell cycle inhibitors protect motor neurons in an organoid model of Spinal Muscular Atrophy

(2018) Jin Hui Hor et al.   Cell Death & Disease

Autonomic dysfunction in Parkinson's disease: A prospective cohort study

(2017) Aristide Merola et al.   MOVEMENT DISORDERS

Divergent Hox Coding and Evasion of Retinoid Signaling Specifies Motor Neurons Innervating Digit Muscles

(2017) Alana I. Mendelsohn et al.   NEURON

Detecting Activated Cell Populations Using Single-Cell RNA-Seq

(2017) Ye Emily Wu et al.   NEURON

Comprehensive single-cell transcriptional profiling of a multicellular organism

(2017) Junyue Cao et al.   SCIENCE

Massively parallel digital transcriptional profiling of single cells

(2017) Grace X. Y. Zheng et al.   Nature Communications

Dishing out mini-brains: Current progress and future prospects in brain organoid research

(2016) Iva Kelava et al.   DEVELOPMENTAL BIOLOGY

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Diffusion pseudotime robustly reconstructs lineage branching

(2016) Laleh Haghverdi et al.   NATURE METHODS

Modeling ALS with motor neurons derived from human induced pluripotent stem cells

(2016) Samuel Sances et al.   NATURE NEUROSCIENCE

Poly(GR) in C9ORF72 -Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

(2016) Rodrigo Lopez-Gonzalez et al.   NEURON

Gamma motor neurons survive and exacerbate alpha motor neuron degeneration in ALS

(2016) Melanie Lalancette-Hebert et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Div-Seq: Single-nucleus RNA-Seq reveals dynamics of rare adult newborn neurons

(2016) Naomi Habib et al.   SCIENCE

The sacral autonomic outflow is sympathetic

(2016) I. Espinosa-Medina et al.   SCIENCE

Laser capture microscopy coupled with Smart-seq2 for precise spatial transcriptomic profiling

(2016) Susanne Nichterwitz et al.   Nature Communications

Nuclear RNA-seq of single neurons reveals molecular signatures of activation

(2016) Benjamin Lacar et al.   Nature Communications

Selective Expression of Osteopontin in ALS-resistant Motor Neurons is a Critical Determinant of Late Phase Neurodegeneration Mediated by Matrix Metalloproteinase-9

(2016) Yuta Morisaki et al.   Scientific Reports

Activity-Induced DNA Breaks Govern the Expression of Neuronal Early-Response Genes

(2015) Ram Madabhushi et al.   CELL

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

(2015) Evan Z. Macosko et al.   CELL

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

(2015) Angelica Nordin et al.   HUMAN MOLECULAR GENETICS

Translational profiling identifies a cascade of damage initiated in motor neurons and spreading to glia in mutant SOD1-mediated ALS

(2015) Shuying Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spatially resolved, highly multiplexed RNA profiling in single cells

(2015) K. H. Chen et al.   SCIENCE

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

(2014) Evangelos Kiskinis et al.   Cell Stem Cell

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

(2014) Yves Maury et al.   NATURE BIOTECHNOLOGY

Full-length RNA-seq from single cells using Smart-seq2

(2014) Simone Picelli et al.   Nature Protocols

Neuronal Matrix Metalloproteinase-9 Is a Determinant of Selective Neurodegeneration

(2014) Artem Kaplan et al.   NEURON

DNA Damage and Its Links to Neurodegeneration

(2014) Ram Madabhushi et al.   NEURON

Selective degeneration of a physiological subtype of spinal motor neuron in mice with SOD1-linked ALS

(2014) Muhamed Hadzipasic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dlk1 Promotes a Fast Motor Neuron Biophysical Signature Required for Peak Force Execution

(2014) D. Muller et al.   SCIENCE

Motor neurons and the generation of spinal motor neuron diversity

(2014) Nicolas Stifani   Frontiers in Cellular Neuroscience

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

(2013) Yuji Takahashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expression of ALS-linked TDP-43 mutant in astrocytes causes non-cell-autonomous motor neuron death in rats

(2013) Jianbin Tong et al.   EMBO JOURNAL

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

In situ sequencing for RNA analysis in preserved tissue and cells

(2013) Rongqin Ke et al.   NATURE METHODS

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

(2013) Annemarie Hübers et al.   NEUROBIOLOGY OF AGING

RNA-sequencing from single nuclei

(2013) R. V. Grindberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

Motor Circuits in Action: Specification, Connectivity, and Function

(2012) Silvia Arber   NEURON

Patterns of Spinal Sensory-Motor Connectivity Prescribed by a Dorsoventral Positional Template

(2011) Gülşen Sürmeli et al.   CELL

Conversion of Mouse and Human Fibroblasts into Functional Spinal Motor Neurons

(2011) Esther Y. Son et al.   Cell Stem Cell

Repetitive DNA and next-generation sequencing: computational challenges and solutions

(2011) Todd J. Treangen et al.   NATURE REVIEWS GENETICS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Monosynaptic Rabies Virus Reveals Premotor Network Organization and Synaptic Specificity of Cholinergic Partition Cells

(2010) Anna E. Stepien et al.   NEURON

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology

(2009) Stuart J. Rabin et al.   HUMAN MOLECULAR GENETICS

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

Non–cell autonomous toxicity in neurodegenerative disorders: ALS and beyond

(2009) Hristelina Ilieva et al.   JOURNAL OF CELL BIOLOGY

A Cluster of Cholinergic Premotor Interneurons Modulates Mouse Locomotor Activity

(2009) Laskaro Zagoraiou et al.   NEURON

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Hox Repertoires for Motor Neuron Diversity and Connectivity Gated by a Single Accessory Factor, FoxP1

(2008) Jeremy S. Dasen et al.   CELL

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE